Canonical Allele Identifier: CA2073001632
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132673211G= , CM000674.2:g.132673211G= GRCh38
NC_000012.11:g.133249797G= , CM000674.1:g.133249797G= GRCh37
NC_000012.10:g.131759870G= NCBI36
NG_033840.1:g.19314C= , LRG_789:g.19314C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000539215.6:c.134C=
ENST00000545015.2:n.1453C=
ENST00000699982.1:c.1280C=
ENST00000699983.1:c.1280C=
ENST00000699984.1:c.1280C=
ENST00000320574.10:c.1426C= MANE Select ENSP00000322570.5:p.Pro476=
ENST00000672742.1:c.*928C= ENSP00000500279.1:n.*928C=
ENST00000320574.9:c.1426C= ENSP00000322570.5:p.Pro476=
ENST00000535270.5:c.1345C= ENSP00000445753.1:p.Pro449=
ENST00000535934.2:n.1301C=
ENST00000537064.5:c.*473C= ENSP00000442578.1:n.*473C=
ENST00000539215.5:n.134C=
ENST00000545015.1:n.23C=
NM_006231.3:c.1426C= , LRG_789t1:c.1426C= NP_006222.2:p.Pro476=
XM_011534795.1:c.1426C= XP_011533097.1:p.Pro476=
XM_011534796.1:c.1297C= XP_011533098.1:p.Pro433=
XM_011534797.1:c.505C= XP_011533099.1:p.Pro169=
XM_011534798.1:c.88C= XP_011533100.1:p.Pro30=
XM_011534799.1:c.1426C= XP_011533101.1:p.Pro476=
XM_011534800.1:c.1426C= XP_011533102.1:p.Pro476=
XM_011534801.1:c.1426C= XP_011533103.1:p.Pro476=
XR_941395.1:n.1635C=
XM_011534795.3:c.1426C= XP_011533097.1:p.Pro476=
XM_011534797.3:c.505C= XP_011533099.1:p.Pro169=
XM_011534799.2:c.1426C= XP_011533101.1:p.Pro476=
XR_002957338.1:n.1630C=
XR_002957339.1:n.1630C=
XR_941395.2:n.1630C=
NM_006231.4:c.1426C= MANE Select NP_006222.2:p.Pro476=